Mitochondrial glutamyl-tRNA synthetase is a major component of protein biosynthesis that loads tRNAs with cognate amino acids. Mutations in the gene encoding this enzyme have been associated with a variety of disorders related to oxidative phosphorylation. Here, we present a case of leukoencephalopathy with thalamus and brainstem involvement and high… (More)

BACKGROUND AND AIMS
Our aim was to investigate whether neurological alteration in patients with obstructive sleep apnoea syndrome (OSAS) with apparently normal cerebral and cerebellar structures can be assessed by means of apparent diffusion coefficient (ADC) measurement and to investigate the association between OSAS severity and ADC values.
METHODS… (More)

Succinate-CoA ligase, ADP-forming, beta subunit (SUCLA2)-related mitochondrial DNA depletion syndrome is caused by mutations affecting the ADP-using isoform of the beta subunit in succinyl-CoA synthase, which is involved in the Krebs cycle. The SUCLA2 protein is found mostly in heart, skeletal muscle, and brain tissues. SUCLA2 mutations result in a… (More)

The ostiomeatal complex (OMC) is a key area for the drainage and ventilation of the paranasal sinuses. Stenosis created by inflammation and anatomic variations in this region causes an ideal ground for parasanal sinus infections, by preventing the drainage and ventilation of the sinuses. In today's diagnostics of paranasal sinus infections, the role of… (More)

Neuronal ceroid lipofuscinosis (NCL), one of the most common neurodegenerative childhood-onset disorders, is characterized by autosomal-recessive inheritance, epileptic seizures, progressive psychomotor deterioration, visual impairment, and premature death. Based on the country of origin of the patients, the clinical features/courses, and the molecular… (More)

Unilateral isolated paralysis of the soft palate is a rare clinical entity that is associated with rhinolalia and the flow of nasal fluids from the nostril on the affected side. We report a case of a 17-year-old boy admitted complaining of nasal speech and drinks flowing into his right nostril. Most cases of soft palate palsy are idiopathic, whereas a few… (More)

Hereditary congenital facial paresis (HCFP) is characterized by isolated dysfunction of the facial nerve (CN VII) due to congenital cranial dysinnervation disorders. HCFP has genetic heterogeneity and HOXB1 is the first identified gene. We report the clinical, radiologic and molecular investigations of three patients admitted for HCFP in a large… (More)

BACKGROUND
Stent insertion is widely performed to restore biliary drainage in hepatic, biliary, and pancreatic obstructive conditions. Intestinal perforation due to the migration of these stents is an extremely rare late-term complication that is associated with a high rate of mortality. The current report aimed at presenting the radiological findings of a… (More)

A 15-month-old male infant was admitted to our clinic due to complaints of hyperirritability that had persisted since he was 6 months old. The infant exhibited axial hypotonia, visual fixation, and tracking, as well as very limited spontaneous movements, and no head control. Tendon reflexes were to elicit. The patient was unable to exhibit head control… (More)

Obstructive sleep apnea syndrome (OSAS) is a common disorder and in subjects with OSAS the prevalence of hypothyroidism is approximately 1.2–11 %. The episodes of hypoxia/reoxygenation associated with the respiratory disturbances observed in subjects with OSAS increases the risk of cardiovascular diseases. Hypothyroidism; primary or subclinical, has several… (More)